isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data

isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data

Abstract Background Accurate copy number variant (CNV) detection is especially challenging for both targeted sequencing (TS) and whole‐exome sequencing (WES) data. To maximize the performance, the parameters of the CNV calling algorithms should be optimized for each specific dataset. This requires o...

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Bibliographic Details
Main Authors: Rosa Barcelona-Cabeza, Walter Sanseverino, Riccardo Aiese Cigliano
Format: Article
Language:English
Published: BMC 2021-10-01
Series:BMC Bioinformatics
Subjects:
Copy number variants
CNV
Optimization
NGS
WES
TS
Online Access:https://doi.org/10.1186/s12859-021-04452-6

Internet

https://doi.org/10.1186/s12859-021-04452-6

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